Searchable abstracts of presentations at key conferences on calcified tissues

ba0003pp84 | Bone development/growth and fracture repair | ECTS2014

Relation between 25-hydroxyvitamin D level and blood pressure in healthy young Saudi women: effect of adiposity

Kadi Hanan Al

Objectives: The aim of this study was to determine the relationship between 25-hydroxyvitamin D (25(OH) D) level and blood pressure (BP) in Saudi women and to assess the effect of BMI, as a measure of adiposity, on this relationship.Methods: Three-hundred and three apparently healthy Saudi women (20–40 years old) were randomly selected for this cross-sectional study. All women signed an informed consent and the study was approved by the Ethical Comm...

ba0006p138 | (1) | ICCBH2017

Fibrodysplasia ossificans progressiva: baseline characteristics of 101 subjects participating in a global, longitudinal, natural history study

Kaplan Frederick S , Hsiao Edward C , Baujat Genevieve , Brown Matthew A , De Cunto Carmen , Di Rocco Maja , Keen Richard , Al Makkadam Mona , Grogan Donna R , Pignolo Robert J

Objectives: Progressive heterotopic ossification in fibrodysplasia ossificans progressiva (FOP; OMIM #135100) begins in childhood and leads to irreversible restriction of movement, functional impairment, and shortened life-span. Baseline data from an on-going, global, 3-year, natural history study (NHS) describe FOP disease characteristics, and retrospective flare-up history, causes/symptoms, and outcomes.Methods: Data from 101 subjects (recruited from 2...

ba0002p5 | (1) | ICCBH2013

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: clinical and molecular genetic findings

Al-Mayouf Sulaiman , Albuhairan Intisar

Objectives: To describe the clinical, laboratory, radiological and genetic findings of camptodactyly-arthropathycoxa vara-pericarditis (CACP) syndrome in Saudi children.Methods: Medical records of all children with CACP syndrome seen between June 1990 and June 2012 at KFSHRC-Riyadh were reviewed. The data included: gender, age at disease onset, referral diagnosis, clinical and radiological features and molecular genetic studies as well as functional stat...

ba0003pp283 | Osteoporosis: pathophysiology and epidemiology | ECTS2014

Prevalence of osteopenia using calcaneal quantitaive ultrasound among adults in Dubai

AlShaali Anood , Jaziri Amal Al

Introduction: Osteoporosis is a progressive bone disease characterized by low bone mineral density (BMD), decreased bone strength and increased incidence of fragility fractures. It is one of the major public health conditions, affecting millions of people worldwide. Osteopenia is a potential precursor of osteoporosis and identifying this condition is a pivotal step to institute preventive strategies at younger age, leading to delay in onset or prevention of the disease, thus r...

ba0005p163 | Cell biology: osteoblasts and bone formation | ECTS2016

Inhibition of histone demethylase LSD1 suppresses osteoblast differentiation

Al Majidi Rana , Tarkkonen Kati , Kiviranta Riku

Post-translational modifications of histone N-terminal tail domains affect the local chromatin conformation and serve as a dynamic regulatory layer for controlling gene transcription during cell differentiation. However, the role of epigenetic modifications in the regulation of osteoblast differentiation is still not fully understood. Recently, we identified RCOR2 as a novel regulator of osteoblast differentiation in a genome-wide transcription profiling of mouse MC3T3-E1 cell...

ba0006p101 | (1) | ICCBH2017

Establishing the clinical need for a dedicated service for children and adolescents with Osteogenesis Imperfecta in the Republic of Ireland

Ryan Harriet , Qanoobi Maimoona Al , McDonnell Ciara

Objectives: Research studies confirm that children with osteogenesis imperfecta (OI) benefit from co-ordinated multidisciplinary services to optimise outcomes and reduce morbidity and mortality. Implementation of a tertiary paediatric centre of excellence within the Republic of Ireland is contentious due to the absence of data on the prevalence, service needs and medical requirements of these patients.Methods: A retrospective chart review of all patients...

ba0006p115 | (1) | ICCBH2017

Expanding the genotype--phenotype correlation of osteogenesis imperfecta with a novel mutation in Col1A2 gene

Al Qanoobi Maimoona , Ryan Harriet , McDonnell Ciara

Background: Osteogenesis imperfecta [OI] is a disorder of bone fragility with a variable spectrum of severity and poor correlation of antenatal findings with postnatal outcome. We present two antenatal diagnosed cases with a mild postnatal course significant for the absence of fractures and progressive remodelling of the long bones. A novel heterozygous pathogenic mutation predicted to replace glycine with aspartic acid at position 913 in exon 42 of the COL1A2 gene has been id...

ba0005p256 | Genetics and Epigenetics | ECTS2016

OPTN and CCDC3 share a bidirectional promoter region that is regulated by NfkB

Silva Iris A.L. , Conceicao Natercia , Leonor Cancela M.

OPTN seems to have an important role in bone metabolism by being part of NfkB pathway. CCDC3 is highly expressed in adipocytes and it seems to be negatively regulated by TNFa, however the mechanisms are not very clear. These genes have a ‘head-to-head’ orientation in the genome, which suggests that they might be regulated by a bidirectional promoter that coordinates the expression of both genes in different tissues. Using bioinformatic tools we analyzed the shared re...

ba0005p257 | Genetics and Epigenetics | ECTS2016

Comparative analysis of human and zebrafish OPTN: molecular and evolutionary perspectives

Silva Iris A.L. , Conceicao Natercia , Michou Laetitia , Leonor Cancela M.

Optineurin (OPTN) is a protein encoded by the OPTN gene. This protein is involved in several cellular mechanisms such as autophagy, NF-κB signaling, cellular morphogenesis, membrane and vesicle trafficking, and transcription activation. Mutations in OPTN have been described in glaucoma, amyotrophic lateral sclerosis and other neurological diseases. More recently, a polymorphism in this gene was also identified by a genome wide association study to be ass...

ba0006p072 | (1) | ICCBH2017

Raised intracranial pressure in a boy with Pycnodysostosis with open fontanelles

Al Hashmi Laila , Padidela Raja , Skae Mars , Mughal M Zulf

Background: Pycnodysostosis (PDO) is a rare autosomal recessive high bone mass disorder caused by absence of active cathepsin K, which is a lysosomal cysteine protease that plays an important role in degrading the organic matrix of bones. In spite of open fontanelles, raised intracranial pressure has been reported in children with PDO.Presenting problem: We describe a 13-year-old boy with PDO who developed raised intracranial pressure (ICP) which led to ...